Psychiatric manifestations of Kleefstra syndrome: a case report.

ABSTRACT:

Background

Kleefstra syndrome is a rare genetic condition, which affects at least 1 in 120,000 individuals who have a neurodevelopmental disorder, characterized by the core clinical phenotype of intellectual disability, hypotonia, severe speech delay, and distinct facial characteristics with additional clinical features including sleep disturbance, overweight, psychiatric disorders, and autism spectrum disorder. To date, a limited number of case reports of Kleefstra syndrome with psychiatric manifestations have been reported.

Case presentation

We reported a case of a 35-year-old male diagnosed with Kleefstra syndrome, who also had diagnoses of autism spectrum disorder and moderate to severe intellectual disability. He exhibited various psychiatric manifestations, including t

SUBMITTER: Yoshida K 

PROVIDER: S-EPMC10416101 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature